Literature DB >> 15911822

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.

M T Pellecchia1, E M Valente, L Cif, S Salvi, A Albanese, V Scarano, U Bonuccelli, A R Bentivoglio, A D'Amico, C Marelli, A Di Giorgio, P Coubes, P Barone, B Dallapiccola.   

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. Only nine patients could be classified as classic or atypical PKAN, and intermediate phenotypes are described. Two patients presented with motor tics and obsessive-compulsive behavior suggestive of Tourette syndrome.

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Year:  2005        PMID： 15911822     DOI： 10.1212/01.WNL.0000161843.52641.EC

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  20 in total

1.  Conversion disorder as initial diagnosis in pantothenate kinase associated neurodegeneration.

Authors:  I Vansteenkiste; W A van Gool; D J Hofstee; Marina A J Tijssen
Journal:  J Neurol       Date:  2010-08-18       Impact factor: 4.849

Review 2.  Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.

Authors:  Manju A Kurian; Susan J Hayflick
Journal:  Int Rev Neurobiol       Date:  2013       Impact factor: 3.230

Review 3.  Pantothenate kinase-associated neurodegeneration mimicking Tourette syndrome: a case report and review of the literature.

Authors:  Mohammad Rohani; Alfonso Fasano; Anthony E Lang; Babak Zamani; Leila Javanparast; Mohammad-Masoud Rahimi Bidgoli; Afagh Alavi
Journal:  Neurol Sci       Date:  2018-06-21       Impact factor: 3.307

Review 4.  Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.

Authors:  F Lamari; F Mochel; F Sedel; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  2012-07-20       Impact factor: 4.982

5.  A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.

Authors:  P Rump; H H Lemmink; C C Verschuuren-Bemelmans; P M Grootscholten; J M Fock; S J Hayflick; S K Westaway; Y J Vos; A J van Essen
Journal:  Neurogenetics       Date:  2005-10-21       Impact factor: 2.660

6.  Involvement of globus pallidus and midbrain nuclei in pantothenate kinase-associated neurodegeneration: measurement of T2 and T2* time.

Authors:  R Fermin-Delgado; P Roa-Sanchez; H Speckter; E Perez-Then; D Rivera-Mejia; B Foerster; P Stoeter
Journal:  Clin Neuroradiol       Date:  2012-01-19       Impact factor: 3.649

7.  Neurodegeneration with brain iron accumulation: A case report.

Authors:  Daniel Nassif; João Santos Pereira; Mariana Spitz; Cláudia Capitão; Alessandra Faria
Journal:  Dement Neuropsychol       Date:  2016 Apr-Jun

Review 8.  The management of tics.

Authors:  David Shprecher; Roger Kurlan
Journal:  Mov Disord       Date:  2009-01-15       Impact factor: 10.338

9.  Sleep in genetically confirmed pantothenate kinase-associated neurodegeneration: a video-polysomnographic study.

Authors:  Maria Livia Fantini; Giovanni Cossu; Andrea Molari; Monia Cabinio; Ozlem Uyanik; Roberto Cilia; Maurizio Melis; Angelo Antonini; Luigi Ferini-Strambi
Journal:  Parkinsons Dis       Date:  2010-06-29

Review 10.  Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.

Authors:  Neha Sami; Vijay Kumar; Asimul Islam; Sher Ali; Faizan Ahmad; Imtaiyaz Hassan
Journal:  Mol Neurobiol       Date:  2016-08-20       Impact factor: 5.590
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